Genetic experts push for awareness of rare Tay-Sachs disease

PHILADELPHIA (WPVI) -- Tay-Sachs is a devastating genetic disease with no known cure. But now, experts are hoping a new push for awareness could help parents down the road.

Nathan Harney passed away in June of 2014 of Tay-Sachs. His parents were only able to share four short years with him.

Although they struggle with this unthinkable loss every day, they now have two new miracles in their lives and a wish that Nathan's legacy will help save many more.

Today, Nathan's parents predict one of their new miracles, Ryland, will be the high energy trouble maker and his twin brother, Jacob, will have the more laid back demeanor. And while they are proving to be very different newborns, they not only share the bond of being a twin, but the middle name of their older brother, Nathan.

"They are miracles and it's bittersweet because we wish they would have known their older brother," said mom, Katherine Harney.

Nathan passed away after a long and courageous battle with Tay-Sachs, a disease in which a broken gene causes the brain and spinal cord to slowly stop working.

Although rare, the Tay-Sachs gene was found to be more prevalent in people of Jewish decent. But Albert Einstein Medical Center Genetic Counselor Amy Beth Weaver says studies are now examining a different lineage.

"In the Irish community, they are talking about the rate being as high as 1 in 50, which would be 2 percent of the Irish population," she said.

The Harney's, who are of Irish decent, both carry the gene but are healthy. However, as a couple they have a 1 in 4 chance of their children developing the disease.

"Had we known it was a high carrier in the Irish we could have been tested and we would have had completely healthy children," said Katherine.

Jacob and Ryland are healthy. Doctors performed genetic testing on the embryos before Katherine went through IVF.

While having more children was a difficult decision, they knew a part of Nathan would live on in his brothers.

"We wanted them to be Nathan's legacy and we wanted them to keep spreading awareness even after we were gone," said Katherine.

To help spread that awareness and research, there are two screening events coming up.

The first during a St. Patrick's Day event on Sunday, March 13th from 4 p.m. to 7 p.m. at WHYY located at 150 N. Sixth Street on Independence Mall in Philadelphia.

The second event will be held on March 17th, St. Patrick's Day, from 1 p.m. to 3 p.m. at Albert Einstein Medical Center in Philadelphia.

To be a part of the study and screening process you have to be 18 and have at least 3 grandparents of Irish decent.

For more information on Tay-Sachs disease, CLICK HERE.

Questions about Tay-Sachs disease can be e-mailed to: irish@tay-sachs.org.